The Division of Medical Genetics at UPMC Children's Hospital of Pittsburgh is committed to the treatment and study of genetic disorders in children, providing advanced patient care of the highest quality and an active research program dedicated to providing a deeper understanding of the fundamental issues underlying these disorders and developing better therapeutic approaches.

Clinical services, a critical part of the comprehensive care offered by the Division of Medical Genetics, include diagnosis, evaluation, treatment and management of a range of genetic conditions, such as birth defects, chromosomal abnormalities, specific genetic syndromes and inborn errors of metabolism. These services are organized under two programs: an Inborn Errors of Metabolism Clinic and a General Genetics Clinic. Both offer an experienced team of faculty and staff, including physician geneticists, genetic counselors, a nurse practitioner, metabolic dietitian and social worker.

Inborn Errors of Metabolism Clinic

The Inborn Errors of Metabolism Clinic at Children’s Hospital provides diagnostic services, evaluation, treatment management, genetic counseling and other support to children with these inherited disorders and to their families. A Phenylketonuria Clinic specializes in the diagnosis, treatment and management of one of the most common inborn errors of metabolism.

General Genetics Clinic

The General Genetic Clinic provides diagnostic evaluations, appropriate treatment, follow up and support for children with known or suspected genetic disorders that fall outside the scope of the division’s Inborn Errors of Metabolism Clinic.

Counseling, education and other support services to address all of the needs of patients and their families are also provided. Genetic counselors are available to help to identify families at risk, serve as patient advocates, help families understand genetic disorders and their consequences, provide supportive counseling and counsel families who may be at risk for inherited conditions. Division staff members also help families arrange for physical, occupational and speech therapists, comprehensive developmental assessments and other services and support. Initial General Genetics Clinic appointment(s) must be held at UPMC Children's main campus in Pittsburgh. Follow-up appointments may be available via telemedicine at Children's Specialty Care Center Erie and Children's Specialty Care Center Johnstown.

Research within the division is providing new insight into genetic disorders from which new and better therapies can be developed. The laboratory research program focuses on discovering the underlying causes of genetic diseases, understanding the clinical implications of mutations in genes, and development of novel approaches for treatment of genetic disorders. An active clinical research program collaborates with other genetic programs world wide to evaluate new therapies for genetic disease.

Referral Requirements

Referrals from primary care physicians, medical and social agencies or other UPMC Children’s Hospital specialty services are helpful, but not necessary. Authorization from the patient’s insurance provider and/or primary care physician may be needed for insurance coverage. The Division of Genetic & Genomic Medicine staff can help with these matters. Medical records from previous evaluations performed outside of the UPMC system will be requested. For more information, please call the office at 412-692-5070.



Clinical Studies

  • Genetics

    UPMC Children's Hospital of Pittsburgh
    4401 Penn Avenue
    Floor 3
    Floor 3, PA 15224
  • Genetic Testing Clinic (GTC)

    UPMC Children's Hospital of Pittsburgh
    4401 Penn Avenue
    Floor 6
    Pittsburgh, PA 15224
  • Children's North

    2599 Wexford Bayne Rd.
    Sewickley, PA 15143
  • Children's East

    4055 Monroeville Blvd.
    Building One
    Monroeville, PA 15146
  • Children's Specialty Care Center Johnstown

    Pediatric Telemedicine
    865 Eisenhower Blvd.
    Johnstown, PA 15904
  • Children's Specialty Care Center Erie at Magee–Womens, UPMC Hamot

    Pediatric Telemedicine
    118 East 2nd Street
    Erie, PA 16507
  • Amish & Mennonite Research Registry

    Research Contact Registry for Members of the Amish and Mennonite Communities

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    Arginase 1 Deficiency Treatment with Pegzilarginase: The PEACE Study – Phase II

    PEACE (Pegzilarginase Effect on Arginase 1 Deficiency Clinical Endpoints): A Randomized, Double-Blind, Placebo-Controlled Phase 3 Study of the Efficacy and Safety of Pegzilarginase in Children and Adults with Arginase 1 Deficiency

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    Enzyme Deficiency Study

    Laboratory Study of Acyl-CoA Dehydrogenases

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    Fabry Disease Treatment Using 4D-310 Gene Therapy – Phase I/II

    Trial of Gene Therapy 4D-310 in Adult Males with Classic Fabry Disease

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    Fabry Disease Treatment Using AVR-RD-01 Gene Therapy: The FAB-GT Study – Phase I/II

    Study of the Efficacy and Safety of Ex Vivo, Lentiviral Vector-mediated Gene Therapy AVR-RD-01 for Treatment-Naïve Subjects with Classic Fabry Disease

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    Fabry Disease Treatment with PRX102 compared to Agalsidase Beta: The BALANCE Study – Phase III

    Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta

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    Gaucher Disease and Effects of Taliglucerase Alfa – Phase IV

    Study of Elelyso™ (Taliglucerase Alfa) in Pediatric Subjects with Type 1 Gaucher Disease

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    Gaucher Disease Enzyme Replacement Therapy Registry

    Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease

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    Gaucher Disease Outcome Survey – The GOS Study

    An Observational, International, Multi-center, Long-Term Registry of Patients with Gaucher Disease

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    Genetic Disorder Discovery Through DNA Sequencing

    Use of Whole Exome and Genome Sequencing to Identify New Genetic Disorders

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    Genetic Disorder Identification in Amish & Mennonite Communities

    Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities

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    Genome Sequencing of Infants in the ICU: The PISCES Study

    Whole Genome Sequencing in the Intensive Care Unit Population

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    Hemorrhagic Telangiectasia & Vascular Malformations Registry

    Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Registry and Sample Repository

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    Hypophosphatasia (HPP) Registry

    Long-term Registry of Patients with Hypophosphatasia

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    Inborn Errors of Metabolism Registry

    Inborn Errors of Metabolism Information System (IBEM-IS)

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    MELAS Disorder in NW Pennsylvania Amish Community

    Investigation of the Common MELAS Mutation in the Northwestern Pennsylvania Amish Community: Mutation Frequency and Effectiveness of an Educational Intervention

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    Metachromatic Leukodystrophy Progression Study

    Natural History Study of Children with Metachromatic Leukodystrophy

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    Methylmalonic Acidemia Treatment with hLB-001 Gene Therapy: The SUNRISE Trial – Phase I/II

    Study of hLB-001 Gene Therapy in Pediatric Patients with Methylmalonic Acidemia Characterized by MMUT Mutations

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    Methylmalonic and Propionic Acidemias Natural History – The MaP Study

    MaP: Mapping the Patient Journey in Methylmalonic and Propionic Acidemia, A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients with Organic Acidemias

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    MPS II (Hunter Syndrome) Outcome Survey – The HOS Study

    A Global, Multi-Center, Long-Term, Observational Registry of Patients with Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II)

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    MPS II (Hunter Syndrome) Treatment with Idursulfase-IT and Elaprase – Phase I/II

    Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment

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    MPS II (Hunter Syndrome) Treatment with Idursulfase-IT & Elaprase – Phase II/III

    Extension of Study HGT-HIT-094 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment

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    MPS IVA (Morquio) Registry: The MARS Study

    Morquio A Registry Study (MARS)

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    MPS VI (Maroteaux-Lamy Syndrome) Registry

    Mucopolysaccharidosis Type VI Clinical Surveillance Program

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    Neurodegenerative Disorders Study

    Longitudinal Investigation of Neurodegenerative Disorders in Children

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    Osteogenesis Imperfecta Treatment With BPS804 – Phase IV

    Study in Adult Patients with Type I, III or IV Osteogenesis Imperfecta Treated With BPS804

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    Phosphomannomutase Deficiency Natural History Study

    Clinical and Basic Investigations into Phosphomannomutase Deficiency

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    PKU Health Monitoring Study

    A Prospective Clinical Study of Phenylketonuria

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    PKU Registry

    PKUDOS - PKU Demographics, Outcomes, and Safety Registry

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    PKU Response to Liver Cell Transplant as Measured by Phe Conversion

    Whole Body Turnover Studies of 1-13C Phe in Patients with Phenylketonuria

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    PKU Treatment with HMI-102 Gene Therapy: The pheNIX Study – Phase I/II

    Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-102 in Adult PKU Subjects with PAH Deficiency

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    PKU Treatment with SYNB1618 – Phase II

    Study of the Efficacy and Safety of SYNB1618 in Subjects with Phenylketonuria

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    Propionic Acidemia Variant Among Amish/Mennonite – A Chart Review

    Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia

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    Propionic Acidemia & Methylmalonic Acidemia Specimen Sampling Study

    A Stool and Biological Specimen Sampling Study in Subjects with Propionic or Methylmalonic Acidemia

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    Propionic Acidemia Treatment with mRNA-3927 – Phase I/II

    Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3927 in Participants with Propionic Acidemia

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    Pyruvate Dehydrogenase Complex Deficiency Treatment With Dichloroacetate – Phase III

    Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency

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    Urea Cycle Disorder Registry: The THRIVE Study

    Long-Term Registry of Patients With Urea Cycle Disorders

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    Urea Cycle Disorder Treatment with KB195: The UNLOCKED Study – Phase II

    Study to Evaluate the Efficacy and Safety of KB195 in Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care

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    Urea Cycle Disorder Treatment with Glycerol Phenylbutyrate & Sodium Phenylbutyrate – Phase IV

    Study of the Safety, Pharmacokinetics and Ammonia Control of RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid and Sodium Phenylbutyrate in Phenylbutyrate Treatment Naïve Patients with Urea Cycle Disorders

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